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DYRK1A-related intellectual disability syndrome

Disease definition

A rare genetic syndromic intellectual disability characterized by microcephaly, global developmental delay, mild to severe intellectual disability, impairment of speech, feeding problems, behavior problems (often autism spectrum disorder) and dysmorphic facial features (such as prominent ears, deep-set eyes, a short nose with a broad nasal tip, and retrognathia with a broad chin). Other, more variable manifestations include seizures, short stature, ocular anomalies, cardiac anomalies, urogenital anomalies and musculoskeletal defects.

ORPHA:464306

Classification level: Disorder
  • Synonym(s):
    • DYRK1A syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Not applicable or Autosomal dominant or Unknown 
  • Age of onset: Infancy
  • ICD-10: -
  • OMIM: 614104
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information

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